Distal trisomy 10q and limb defects

Abstract

Analysis of the literature showed that hypoplasia (or aplasia) of tibiae was found at least in six persons with trisomy 10q25.2-qter. Therefore, these defects should be considered as a characteristic manifestation of the distal trisomy 10q. In most of these patients, tibial abnormalities were associated with other defects of the lower extremities (hypoplastic femora, ectrodactyly, preaxial polydactyly). Upper limbs were affected in one patient (as well as in her sib without tibial defects). Most likely, segment 10q25.2-qter contains a gene which (when triplicated) leads to maldevelopment of the limbs, and tibial malformations are only one manifestation of this field defect.